Scn5a^tm1.1Iba
Targeted Allele Detail

Summary

• Symbol: Scn5a^tm1.1Iba
• Name: sodium channel, voltage-gated, type V, alpha; targeted mutation 1.1, Isabelle Baro
• MGI ID: MGI:6415584
• Synonyms: Scn5a^deltaQKP
• Gene: Scn5a Location: Chr9:119312474-119408082 bp, - strand Genetic Position: Chr9, 71.33 cM
• Alliance: Scn5a^tm1.1Iba page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:266290
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129/Sv

Mutation description

• Allele Type: Targeted (Not Specified)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exon 26 was replaced with one containing a deletion of residues QKP 1510-1512 (CAGAAGCCC). In addition, an FRT-flanked neomycin resistance cassette in opposite-orientation was inserted 148 bp upstream of exon 26. Flp-mediated recombination removed the selection cassette resulting in an allele with deletion of the QKP amino acids. This deletion is equivalent to the human QKP1507-1509 deletion in patients with Long QT syndrome. (J:266290)

Disease models

Expression

In Structures Affected by this Mutation:

6 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Scn5a Mutation: 104 strains or lines available

References

• Original: J:266290 Montnach J, et al., Arrhythmias precede cardiomyopathy and remodeling of Ca(2+) handling proteins in a novel model of long QT syndrome. J Mol Cell Cardiol. 2018 Aug 22
• All: 2 reference(s)